Cellosaurus cell line IISHDOi004-A (CVCL

Cellosaurus IISHDOi004-A (CVCL_VN42)

Cross-references
Cell line name	IISHDOi004-A
Synonyms	RPAB16-FiPS4F3
Accession	CVCL_VN42
Resource Identification Initiative	To cite this cell line use: IISHDOi004-A (RRID:CVCL_VN42)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain. Population: Caucasian; Spanish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Homozygous (PubMed=30096711).
Disease	Usher syndrome type 2 (NCIt: C126328) Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	47Y
Category	Induced pluripotent stem cell
Web pages	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/169/Caracteristicas%20-%20Documento%20Dep%c3%b3sito%20-%20RPAB16-FiPS4F3-v2.pdf
Publications	PubMed=30096711; DOI=10.1016/j.scr.2018.08.002 Zurita-Diaz F., Ortuno-Costela M.C., Moreno-Izquierdo A., Galbis L., Millan J.M., Ayuso C., Garesse R., Gallardo M.E. Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. Stem Cell Res. 31:152-156(2018)
Cell line databases/resources	hPSCreg; IISHDOi004-A
Encyclopedic resources	Wikidata; Q94315429
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	12